[The Rubinstein-Taybi syndrome (author's transl)]

Dtsch Med Wochenschr. 1978 Sep 29;103(39):1505-10. doi: 10.1055/s-0028-1129291.
[Article in German]

Abstract

The clinical picture of the Rubinstein-Taybi syndrome is characterized by mental retardation, broad thumb and large toe, beaky nose, antimongloid lid axis and numerous morphological signs. The patients resemble one another so that in many instances the diagnosis can be made on sight. Three cases are described. The exact differentiation from other abnormalities with mental retardation is important, especially in genetic counselling of the affected families.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Adolescent
  • Adult
  • Child, Preschool
  • Dermatoglyphics
  • Diagnosis, Differential
  • Female
  • Genetic Counseling
  • Humans
  • Karyotyping
  • Pedigree
  • Rubinstein-Taybi Syndrome* / diagnosis*
  • Rubinstein-Taybi Syndrome* / genetics